Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil

Translated title of the contribution: Fragile X tremor ataxia syndrome (FXTAS): A new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers

Montserrat Mil, Irene Madrigal, Jaime Kulisevsky, Javier Pagonabarraga, Beatriz Gómez, Aurora Sánchez, Laia Rodríguez-Revenga

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Background and objectives: It has been estimated that 1:1233 males and 1:411 female sare FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. Patients and method: Among 398 fragile X syndrome families, we evaluated 112 premutated carrier solder than 50 year. Results: FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome. Conclusions: Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken in to account among spinocerebelar ataxia patients with an unknown etiology.

Translated title of the contributionFragile X tremor ataxia syndrome (FXTAS): A new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers
Original languageSpanish
Pages (from-to)252-254
Number of pages3
JournalMedicina Clinica
Volume133
Issue number7
DOIs
StatePublished - Jul 18 2009
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General Medicine

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